ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.1040+1G>A (rs1245372794)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559900 SCV000638424 pathogenic Facioscapulohumeral muscular dystrophy 2 2017-05-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the SMCHD1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in SMCHD1 are known to be pathogenic. This particular variant has been reported to segregate with disease in a family affected with facioscapulohumeral-like muscular dystrophy (PMID: 24755953). However, the affected members of this family also had a borderline number of D4Z4 repeats (10). For these reasons, this variant has been classified as Pathogenic.

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